Magel2 Research

MAGEL2 is one of the key genes involved in Prader-Willi syndrome and the cause of another rare syndrome: Schaaf-Yang syndrome. The Foundation for Prader-Willi Research (FPWR) has funded a number of studies to understand how MAGEL2 normally functions, and how loss of MAGEL2 function causes the symptoms associated with SYS and PWS. Here are a few studies that have been funded:

The MAGEL2 Phenotype in comparison to classic Prader-Willi Syndrome

Loss of Magel2 and Hypotonia in Prader-Willi Syndrome

Oxytocin treatment in Magel2 deficient mice

Linking the cellular function of Magel2 to its role in PWS

Evaluation of autism-like behaviors in mice deficient for Magel2

How does Oxytocin cure early feeding and adult social behavior alterations in MAGEL2 deficient mice

Injectable protein based gene activation therapy for PWS

Inhibitory circuits and transmission in the hypothalamus in a mouse model of PWS

Development of appetite-related neural circuits in a mouse model

Oxytocin actions on prefrontal cortical circuits in a mouse model

Development of leptin disregulation in a mouse model of obesity in PWS.